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- W3013497394 abstract "DNA methylation in the human genome is largely programmed and shaped by transcription factor binding and interaction between DNA methyltransferases and histone marks during gamete and embryo development. Normal methylation profiles can be modified at single or multiple loci, more frequently as consequences of genetic variants acting in cis or in trans, or in some cases stochastically or through interaction with environmental factors. For many developmental disorders, specific methylation patterns or signatures can be detected in blood DNA. The recent use of high-throughput assays investigating the whole genome has largely increased the number of diseases for which DNA methylation analysis provides information for their diagnosis. Here, we review the methylation abnormalities that have been associated with mono/oligogenic diseases, their relationship with genotype and phenotype and relevance for diagnosis, as well as the limitations in their use and interpretation of results." @default.
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- W3013497394 date "2020-03-26" @default.
- W3013497394 modified "2023-10-03" @default.
- W3013497394 title "DNA Methylation in the Diagnosis of Monogenic Diseases" @default.
- W3013497394 cites W1488234983 @default.
- W3013497394 cites W1513176044 @default.
- W3013497394 cites W1574226590 @default.
- W3013497394 cites W1602038320 @default.
- W3013497394 cites W1629149231 @default.
- W3013497394 cites W1689312897 @default.
- W3013497394 cites W1837901569 @default.
- W3013497394 cites W1844199574 @default.
- W3013497394 cites W1965669105 @default.
- W3013497394 cites W1966805460 @default.
- W3013497394 cites W1967753627 @default.
- W3013497394 cites W1967915464 @default.
- W3013497394 cites W1982946759 @default.
- W3013497394 cites W1984589574 @default.
- W3013497394 cites W1985124610 @default.
- W3013497394 cites W1985444222 @default.
- W3013497394 cites W1986105777 @default.
- W3013497394 cites W1987037915 @default.
- W3013497394 cites W1989062217 @default.
- W3013497394 cites W1994817684 @default.
- W3013497394 cites W2002453249 @default.
- W3013497394 cites W2003790621 @default.
- W3013497394 cites W2007263599 @default.
- W3013497394 cites W2007646794 @default.
- W3013497394 cites W2008270359 @default.
- W3013497394 cites W2012165639 @default.
- W3013497394 cites W2013928795 @default.
- W3013497394 cites W2015180872 @default.
- W3013497394 cites W2018380248 @default.
- W3013497394 cites W2019127737 @default.
- W3013497394 cites W2020590257 @default.
- W3013497394 cites W2022766685 @default.
- W3013497394 cites W2030352564 @default.
- W3013497394 cites W2031821698 @default.
- W3013497394 cites W2033134304 @default.
- W3013497394 cites W2035665988 @default.
- W3013497394 cites W2035877973 @default.
- W3013497394 cites W2037487271 @default.
- W3013497394 cites W2037761873 @default.
- W3013497394 cites W2038779500 @default.
- W3013497394 cites W2043407908 @default.
- W3013497394 cites W2047362927 @default.
- W3013497394 cites W2049061886 @default.
- W3013497394 cites W2052849994 @default.
- W3013497394 cites W2055155751 @default.
- W3013497394 cites W2064280616 @default.
- W3013497394 cites W2066808480 @default.
- W3013497394 cites W2067181747 @default.
- W3013497394 cites W2068888619 @default.
- W3013497394 cites W2081051387 @default.
- W3013497394 cites W2083252195 @default.
- W3013497394 cites W2097607509 @default.
- W3013497394 cites W2104346867 @default.
- W3013497394 cites W2105522795 @default.
- W3013497394 cites W2107718181 @default.
- W3013497394 cites W2108350307 @default.
- W3013497394 cites W2110029186 @default.
- W3013497394 cites W2114249948 @default.
- W3013497394 cites W2114424275 @default.
- W3013497394 cites W2116283958 @default.
- W3013497394 cites W2116578012 @default.
- W3013497394 cites W2116799256 @default.
- W3013497394 cites W2117793442 @default.
- W3013497394 cites W2117817280 @default.
- W3013497394 cites W2120930005 @default.
- W3013497394 cites W2121244495 @default.
- W3013497394 cites W2129375655 @default.
- W3013497394 cites W2129908510 @default.
- W3013497394 cites W2130234884 @default.
- W3013497394 cites W2133404976 @default.